ENG c.976_1048del
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
telangiectasia, hereditary hemorrhagic, type 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- ENG
- Coding
- c.976_1048del
- MANE Select
- NM_001114753
- Type
- Deletion
- Gene constraint
- LOEUF 0.374 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.84 · 3 PDB
Disease context
telangiectasia, hereditary hemorrhagic, type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Hereditary hemorrhagic telangiectasia (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- All ages
- Prevalence
- 1-5 / 10 000 (Europe)
Similar variants
- ENG p.Val568fs Pathogenic ★★★ same condition
- ENG p.Ala312fs Pathogenic ★★ same condition
- ENG p.Ala55fs Pathogenic ★★ same condition
- ENG p.Arg232_Thr233del Likely pathogenic ★★ same condition
- ENG p.Arg399fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Asp246fs Pathogenic ★★ same condition
- ENG p.Cys493fs Pathogenic ★★ same condition
- ENG p.Glu38fs Likely pathogenic ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/eng-c-976-1048del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown